"GeneDx"[submitter] AND "VSX1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 2430436	NM_014588.6(VSX1):c.813G>A (p.Met271Ile)	VSX1 (M271I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3378337	NM_014588.6(VSX1):c.709_719delinsATG (p.Leu237fs)	VSX1 (L237fs +1 more)	Indel (frameshift variant +2 more)	not provided	GUncertain significance
Select item 337965	NM_014588.6(VSX1):c.391C>A (p.Arg131Ser)	VSX1 (R131S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 337967	NM_014588.6(VSX1):c.315C>A (p.Asp105Glu)	VSX1 (D105E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 488734	NM_014588.6(VSX1):c.165C>A (p.Cys55Ter)	VSX1 (C55*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 253759	GRCh37/hg19 20p11.21-11.1(chr20:25039251-26067042)x3	NINL, VSX1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

ClinVar